Return of individual genomic research results: what do consent forms tell participants?
Return of individual genomic research results: what do consent forms tell participants?
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DOI：
10.1038/ejhg.2016.76
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发表时间：
2016-11-01
影响因子：
5.2
通讯作者：
McGuire, Amy L.
中科院分区：
文献类型：
--
作者：
Pereira, Stacey;Robinson, Jill Oliver;McGuire, Amy L.
基因组技术的进步使得为研究目的大规模收集基因组数据成为可能。许多国际倡议寻求收集大量人口的基因组数据，通常依靠现有的收集来充实其数据库。随着这些努力的进展，关于是否将个体遗传研究结果返还给研究参与者的争论仍然是一个有争议的领域。一些人建议，只有在原始研究同意书中解决了问题的情况下，才将结果返回给参与者。然而，目前研究中使用的大部分数据可能来自多年前收集的生物标本，这些生物标本的同意文件没有预期返回个体水平基因组结果的可能性。我们对已发表的全基因组关联研究（GWAS）（n = 40）的知情同意文件进行了分析，以探讨未来是否会使用生物标本或数据进行研究，以及是否解决了结果返回问题，以及如何描述结果以更好地了解参与者对未来披露的期望。我们分析的大多数（70%）GWAS同意文件要么明确表示不会返回个体基因组结果，要么对此问题保持沉默。这对研究人员和研究伦理委员会成员如何管理使用遗留样本和数据的测序研究结果的返回具有影响。
Advances in genomic technology make possible the large-scale collection of genomic data for research purposes. Many international initiatives seek to collect genomic data on large populations, often relying on existing collections to populate their databases. As these efforts progress, the debate over whether or not to return individual genetic research results to study participants remains an area of much contention. Some recommend returning results to participants only if the issue was addressed in the original study consent form. Much of the data being used in current studies, however, may have been derived from biospecimens collected years ago with consent documents that did not anticipate the possibility of returning individual level genomic results. We conducted an analysis of informed consent documents from published genome-wide association studies (GWAS) (n = 40) to explore whether future research use of biospecimens or data is anticipated, and if return of results is addressed and how it is described to better understand participants' expectations for future disclosure. The majority (70%) of the GWAS consent documents we analyzed either stated explicitly that individual genomic results would not be returned or were silent on the issue. This has implications for how researchers and members of Research Ethics Committees manage the return of results from sequencing studies using legacy samples and data.